Mutagenetix > Incidental Mutation

Incidental Mutation 'R7085:Or10d5j'

549839

Institutional Source

Beutler Lab

Gene Symbol

Or10d5j

Ensembl Gene

ENSMUSG00000047352

Gene Name

olfactory receptor family 10 subfamily D member 5J

Synonyms

GA_x6K02T2PVTD-33657378-33656440, Olfr976, MOR224-10

MMRRC Submission

045179-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7085 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39865553-39872340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 39867808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 141 (C141F)

Ref Sequence

ENSEMBL: ENSMUSP00000150077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169307] [ENSMUST00000213171] [ENSMUST00000216647] [ENSMUST00000217360] [ENSMUST00000217630]

AlphaFold

Q8VF15

Predicted Effect

probably damaging
Transcript: ENSMUST00000169307
AA Change: C153F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133083
Gene: ENSMUSG00000047352
AA Change: C153F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	318	1.5e-48	PFAM
Pfam:7TM_GPCR_Srsx	47	271	1.1e-5	PFAM
Pfam:7tm_1	53	300	2.8e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213171
AA Change: C141F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000216647

Predicted Effect

probably damaging
Transcript: ENSMUST00000217360
AA Change: C141F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217630
AA Change: C141F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (75/79)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	C	10: 29,100,476 (GRCm39)	L283P	probably damaging	Het
Abhd18	T	C	3: 40,871,344 (GRCm39)	M132T	possibly damaging	Het
Afap1l1	A	G	18: 61,881,885 (GRCm39)	V270A	possibly damaging	Het
Ankrd34a	A	T	3: 96,505,945 (GRCm39)	Q383L	probably benign	Het
Atp8b5	A	G	4: 43,361,835 (GRCm39)	D627G	probably damaging	Het
Atrnl1	T	A	19: 57,680,289 (GRCm39)	C730S	probably damaging	Het
Bclaf1	T	C	10: 20,197,768 (GRCm39)	S4P	unknown	Het
Blzf1	T	C	1: 164,129,893 (GRCm39)	D153G	probably damaging	Het
Btaf1	T	C	19: 36,950,318 (GRCm39)	V516A	probably benign	Het
C1qa	T	C	4: 136,625,091 (GRCm39)	T20A	probably benign	Het
Cacna1e	A	T	1: 154,349,492 (GRCm39)		probably null	Het
Cfd	T	G	10: 79,728,326 (GRCm39)	V229G	probably damaging	Het
Chd3	T	A	11: 69,260,027 (GRCm39)	H64L	unknown	Het
Cntn3	A	G	6: 102,142,362 (GRCm39)	S1002P	possibly damaging	Het
Cntrl	T	A	2: 35,055,804 (GRCm39)	C1786S	probably benign	Het
Cpa1	A	G	6: 30,643,619 (GRCm39)	D355G	probably benign	Het
D130043K22Rik	T	C	13: 25,056,285 (GRCm39)	V539A	possibly damaging	Het
Ddx1	A	C	12: 13,279,356 (GRCm39)	W428G	probably damaging	Het
Ddx49	G	A	8: 70,755,133 (GRCm39)		probably benign	Het
Dnhd1	T	A	7: 105,364,468 (GRCm39)	V4207E	probably benign	Het
Dock3	A	G	9: 106,779,086 (GRCm39)	S288P	probably damaging	Het
Drap1	G	A	19: 5,474,815 (GRCm39)		probably benign	Het
Ecm2	G	A	13: 49,674,378 (GRCm39)	R266K	probably damaging	Het
Emilin2	A	G	17: 71,581,100 (GRCm39)	L542S	probably damaging	Het
Evx1	T	C	6: 52,293,677 (GRCm39)	Y282H	possibly damaging	Het
Fbxo44	T	A	4: 148,243,200 (GRCm39)	H20L	probably damaging	Het
Flot2	G	T	11: 77,948,900 (GRCm39)	A292S	possibly damaging	Het
Fry	A	G	5: 150,362,214 (GRCm39)	I2161V	probably benign	Het
Gli3	T	C	13: 15,889,647 (GRCm39)	F587S	probably damaging	Het
Gm49368	A	G	7: 127,726,029 (GRCm39)	D1147G	unknown	Het
Gprc5b	A	T	7: 118,582,855 (GRCm39)	M338K	probably damaging	Het
H1f11-ps	A	G	19: 47,159,101 (GRCm39)	V158A	unknown	Het
Hacd3	A	C	9: 64,905,525 (GRCm39)	N204K	probably damaging	Het
Hsd3b9	T	C	3: 98,357,710 (GRCm39)	N101D	probably damaging	Het
Hydin	A	G	8: 111,329,962 (GRCm39)	T4899A	probably benign	Het
Ido2	T	A	8: 25,048,212 (GRCm39)	R49S	probably benign	Het
Igsf3	C	A	3: 101,362,805 (GRCm39)	T942K	probably benign	Het
Kank4	T	A	4: 98,668,183 (GRCm39)	Q88L	probably benign	Het
Krtap16-1	T	A	11: 99,877,111 (GRCm39)	I98F	possibly damaging	Het
Laptm4a	T	C	12: 8,972,113 (GRCm39)	V52A	probably benign	Het
Lmbr1	A	T	5: 29,566,090 (GRCm39)		probably null	Het
Lnx1	G	A	5: 74,788,846 (GRCm39)	S31F	possibly damaging	Het
Mafa	G	T	15: 75,619,536 (GRCm39)	A79E	unknown	Het
Me2	A	T	18: 73,914,129 (GRCm39)	N467K	probably damaging	Het
Med23	T	A	10: 24,746,019 (GRCm39)	L8Q	probably damaging	Het
Muc16	T	A	9: 18,556,145 (GRCm39)	I3383F	unknown	Het
Nbas	G	T	12: 13,335,259 (GRCm39)	S151I	probably damaging	Het
Or10ag60	T	A	2: 87,437,750 (GRCm39)	I6N	probably benign	Het
Or13c25	C	T	4: 52,910,961 (GRCm39)	A278T	probably benign	Het
Or6k6	T	A	1: 173,945,226 (GRCm39)	I119F	probably damaging	Het
Or7d11	G	A	9: 19,966,232 (GRCm39)	H58Y	probably benign	Het
Piezo1	A	G	8: 123,217,633 (GRCm39)	V1305A		Het
Plcb3	T	C	19: 6,937,501 (GRCm39)	E639G	possibly damaging	Het
Polr2a	A	G	11: 69,634,706 (GRCm39)	L658P	probably damaging	Het
Prag1	A	T	8: 36,571,391 (GRCm39)	Q658L	possibly damaging	Het
Prex2	A	T	1: 11,168,812 (GRCm39)	R269S	possibly damaging	Het
Reln	C	A	5: 22,120,085 (GRCm39)	G2856*	probably null	Het
Rsph10b	A	T	5: 143,886,102 (GRCm39)	T267S	possibly damaging	Het
Rtn4rl1	A	G	11: 75,156,050 (GRCm39)	I161V	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sbno1	G	A	5: 124,519,783 (GRCm39)	P1165L	possibly damaging	Het
Scn3b	T	C	9: 40,188,394 (GRCm39)	V29A	probably damaging	Het
Sh3d21	T	A	4: 126,056,884 (GRCm39)	T13S	probably benign	Het
Shisal2b	G	T	13: 104,994,814 (GRCm39)	T111K	probably benign	Het
Slc22a22	G	A	15: 57,113,045 (GRCm39)	T398I	probably benign	Het
Slc40a1	T	A	1: 45,950,688 (GRCm39)	T255S	probably benign	Het
Smchd1	A	T	17: 71,672,214 (GRCm39)		probably null	Het
Soat1	A	T	1: 156,259,901 (GRCm39)	V480D	probably damaging	Het
Spata31e2	A	G	1: 26,722,546 (GRCm39)	L878P	possibly damaging	Het
Supt5	T	A	7: 28,030,914 (GRCm39)	E39V	unknown	Het
Tapbpl	T	C	6: 125,203,451 (GRCm39)		probably null	Het
Tdpoz7	T	A	3: 93,979,939 (GRCm39)	M5L	probably benign	Het
Tlr11	A	T	14: 50,600,113 (GRCm39)	I700F	probably damaging	Het
Tmc3	A	T	7: 83,271,353 (GRCm39)	K864M	possibly damaging	Het
Tns1	G	A	1: 73,964,621 (GRCm39)	P81S	probably benign	Het
Tspan2	C	A	3: 102,668,270 (GRCm39)	L168I	probably benign	Het
Unc13d	C	A	11: 115,955,633 (GRCm39)	S885I	probably benign	Het
Unc45a	A	T	7: 79,976,082 (GRCm39)	M799K	possibly damaging	Het
Usp34	A	G	11: 23,313,097 (GRCm39)	D547G		Het
Vps33b	A	G	7: 79,925,837 (GRCm39)	I95V	probably benign	Het

Other mutations in Or10d5j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Or10d5j	APN	9	39,867,455 (GRCm39)	missense	probably damaging	1.00
IGL02455:Or10d5j	APN	9	39,868,198 (GRCm39)	missense	probably damaging	0.96
R1191:Or10d5j	UTSW	9	39,868,264 (GRCm39)	start codon destroyed	probably null	0.02
R1962:Or10d5j	UTSW	9	39,867,979 (GRCm39)	missense	probably benign	0.00
R2328:Or10d5j	UTSW	9	39,868,196 (GRCm39)	missense	possibly damaging	0.95
R3847:Or10d5j	UTSW	9	39,867,877 (GRCm39)	missense	probably damaging	1.00
R4032:Or10d5j	UTSW	9	39,867,629 (GRCm39)	missense	probably benign	0.14
R4620:Or10d5j	UTSW	9	39,868,205 (GRCm39)	missense	probably damaging	1.00
R5152:Or10d5j	UTSW	9	39,868,202 (GRCm39)	missense	probably benign	0.02
R5163:Or10d5j	UTSW	9	39,868,216 (GRCm39)	missense	probably damaging	1.00
R5323:Or10d5j	UTSW	9	39,868,125 (GRCm39)	nonsense	probably null
R5709:Or10d5j	UTSW	9	39,867,859 (GRCm39)	missense	probably damaging	0.98
R7028:Or10d5j	UTSW	9	39,867,641 (GRCm39)	missense	probably benign	0.00
R7723:Or10d5j	UTSW	9	39,867,920 (GRCm39)	missense	possibly damaging	0.92
R8308:Or10d5j	UTSW	9	39,868,265 (GRCm39)	start codon destroyed	probably benign	0.01
R9193:Or10d5j	UTSW	9	39,867,878 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACTCACAGTCTGCGCTAG -3'
(R):5'- GGCAGTGTTTGACATATTCTTCC -3'

Sequencing Primer
(F):5'- CTAGGGAGGTGTCTGCACATGC -3'
(R):5'- TCTCCTAAGATGATGGACTACCTAG -3'

Posted On

2019-05-15